AFF4

ALF transcription elongation factor 4

Summary

The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011]

Known Variants428 total

rsidPosition (GRCh37)AllelesClassClinVar
rs578809645:132,210,674G/A——
rs3759670925:132,216,741T/C—likely benign
rs13087959905:132,216,763C/T—likely benign
rs13759138865:132,216,768C/T—uncertain significance
rs1128717455:132,216,777G/A—uncertain significance
rs15812647015:132,216,793C/T—likely benign
rs1477392405:132,216,811T/A—likely benign
rs25324225155:132,216,818G/A—uncertain significance
rs7585645055:132,216,829T/C—likely benign
rs20462553035:132,216,832A/G—likely benign
rs3675459445:132,216,895A/T—likely benign
rs737882185:132,217,067C/A—benign
rs25254855:132,218,787A/C—benign
rs737882205:132,218,950A/G—benign
rs16846363215:132,219,013T/C—likely benign
rs13611258275:132,219,025T/C—likely benign
rs3742220425:132,219,038G/C—uncertain significance
rs14138016355:132,219,043T/C—uncertain significance
rs13320780715:132,219,053G/C—uncertain significance
rs7457544575:132,219,075G/A—benign
rs12789922535:132,219,076G/A—uncertain significance
rs1394900545:132,219,077T/C—benign
rs3755016845:132,219,084G/C—likely benign
rs21500635555:132,219,089A/T—uncertain significance
rs12771886305:132,219,107C/T—uncertain significance
rs7738440105:132,219,122T/C—uncertain significance
rs7615578205:132,219,129G/A—likely benign
rs3695878135:132,219,135C/T—likely benign
rs17600367535:132,219,140G/C—uncertain significance
rs7727213925:132,219,154G/C—uncertain significance
rs17600378915:132,219,166G/A—uncertain significance
rs14241027895:132,219,178G/A—uncertain significance
rs1450163935:132,219,180C/T—likely benign
rs25324300385:132,219,186T/A—likely benign
rs17600391165:132,219,189A/G—likely benign
rs14842844685:132,219,226A/G—uncertain significance
rs7645633875:132,219,230G/C—uncertain significance
rs25324304965:132,219,269G/A—likely benign
rs9976335:132,219,304A/T—benign
rs22435515:132,219,384G/A—benign
rs454413965:132,220,748C/T—benign
rs5311498035:132,220,782C/A—likely benign
rs2020016425:132,220,783G/A—uncertain significance
rs13691529675:132,220,795G/A—uncertain significance
rs7536701155:132,220,803A/G—likely benign
rs7549552985:132,220,804T/A—uncertain significance
rs25324346225:132,220,807G/T—uncertain significance
rs3677413525:132,221,994A/C—likely benign
rs15540735255:132,222,000A/G—uncertain significance
rs1476008505:132,222,008G/A—likely benign
rs7631761515:132,222,047C/T—likely benign
rs7550811535:132,222,057T/C—conflicting classifications of pathogenicity
rs3700854385:132,222,080A/G—likely benign
rs7526825755:132,222,086G/A—likely benign
rs3764806385:132,222,114C/T—likely benign
rs1465172015:132,222,115G/A—likely benign
rs21500663455:132,223,211A/G—uncertain significance
rs25324421125:132,223,215A/G—likely benign
rs1419754515:132,223,218T/C—benign
rs7808710665:132,223,223T/C—conflicting classifications of pathogenicity
rs7597107145:132,223,552C/T—likely benign
rs7698722295:132,223,553G/A—uncertain significance
rs25324437465:132,223,575G/A—uncertain significance
rs344342815:132,223,579T/C—likely benign
rs1404054485:132,223,654A/G—uncertain significance
rs25324445195:132,223,668T/G—likely benign
rs25324445285:132,223,670T/A—uncertain significance
rs2012344095:132,223,681A/C—likely benign
rs8936898595:132,223,775G/A—likely benign
rs17601627415:132,223,788C/T—uncertain significance
rs7545065005:132,223,825T/C—likely benign
rs3732899565:132,223,859G/C—likely benign
rs7520584475:132,223,861C/T—likely benign
rs7592867995:132,224,779A/G—likely benign
rs3680813755:132,224,782G/T—likely benign
rs7521562895:132,224,784C/T—uncertain significance
rs7589106795:132,224,798C/T—uncertain significance
rs7804154815:132,224,799G/A—uncertain significance
rs21500674445:132,224,801G/A—uncertain significance
rs12318477895:132,224,825G/A—uncertain significance
rs2004574335:132,224,834G/A—likely benign
rs7551953605:132,224,842A/G—likely benign
rs7792615475:132,224,847A/T—conflicting classifications of pathogenicity
rs21500675225:132,224,858G/A—uncertain significance
rs7729931305:132,224,859C/G—uncertain significance
rs3749934015:132,224,881T/C—likely benign
rs121639735:132,226,664G/Aintron variant—
rs121639715:132,226,669C/T——
rs65960935:132,227,677A/G—benign
rs2014042815:132,227,824T/C—likely benign
rs12597805535:132,227,836C/T—likely benign
rs5533741755:132,227,848C/A—likely benign
rs12397814275:132,227,869G/A—uncertain significance
rs15614823315:132,227,878G/C—uncertain significance
rs12553834175:132,227,887C/T—uncertain significance
rs772470925:132,227,892G/A—likely benign
rs21500695835:132,227,903G/C—uncertain significance
rs7528144325:132,227,915A/C—uncertain significance
rs7707628275:132,227,926T/C—likely benign
rs7694220625:132,227,941G/A—uncertain significance

Showing 100 of 428 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.